Searching across hundreds of databases
Paroxysmal kinesigenic dyskinesia (PKD), the most common type of paroxysmal movement disorders, is caused by mutations in PRRT2 gene. We identified an unreported PRRT2 c. 535 C > T (p. Q 1 7 9 *) pathogenic mutation in a Chinese Han family with PKD and generated an induced pluripotent stem cell (iPSC) line from a patient in the family by reprogramming fibroblasts with sendai virus. The iPSC line was characterized for genetic uniqueness, genomic integrity, pluripotency, and differentiation ability. This iPSC line will be a powerful tool to to study the molecular mechanisms underlying PKD.
Pubmed ID: 33550051 RIS Download
Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.
This polyclonal targets Rabbit Rabbit IgG secondary - H&L
View all literature mentionsThis polyclonal targets Mouse Mouse IgG secondary - H&L
View all literature mentionsThis polyclonal targets Goat anti-Mouse IgG H&L (Cy3 ®) secondary antibody
View all literature mentionsThis polyclonal targets Nanog
View all literature mentionsThis monoclonal targets Human TRA-1-60 (R)
View all literature mentionsThis monoclonal targets Oct-3/4
View all literature mentionsThe SciCrunch Infrastructure was developed as a cooperative data platform to be used by diverse communities in making data more FAIR.
scicrunch.org
